ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826768113
Gene: PCBD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000880965
RCV003907903
RCV004020912
ClinVar Variation:
242621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276726.1:p.Arg39Gln
CA049137
NM_001289797.2:c.116G>A
CA049219
NM_001289797.2:c.[116G>A;-69G>T]